Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Asphyxiating thoracic dystrophy; Infantile thoracic dystrophy; Thoracic pelvic phalangeal dystrophy;
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Lung Diseases;
- Small, narrow chest
- Short ribs
- Shortened bones of the arms and legs
- Unusually shaped pelvis
- Extra fingers and/or toes
Because of the chest and rib abnormalities (which lead to a characteristic "bell-shaped" chest cavity), babies with Jeune syndrome often develop life-threatening breathing difficulties. As a result, many affected people do not live past infancy or early childhood.
Less commonly, Jeune syndrome is associated with only mild breathing problems which allow for survival into adolescence or early adulthood. However, those that live past infancy may experience severe health problems of the kidney and/or heart.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Abnormal shape of pelvic girdle bone
|Abnormality of the ribs||
Smaller or shorter than typical limbs
Low chest circumference
[ more ]
Shorter than typical length between neck and abdomen
|30%-79% of people have these symptoms|
|Abnormal clavicle morphology||
|Abnormal sternum morphology||
Abnormality of the sternum
[ more ]
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Short fingers or toes
Cone-shaped end part of bone
[ more ]
|5%-29% of people have these symptoms|
|Abnormality of retinal pigmentation||0007703|
|Abnormality of the liver||
[ more ]
|Aplasia/Hypoplasia of the lungs||
[ more ]
|Feeding difficulties in infancy||0008872|
Extra toe attached near the little toe
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
Renal failure in adulthood
[ more ]
Decreased body height
[ more ]
[ more ]
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Medscape Reference's Web site offers more specific information on the treatment and management of Jeune syndrome. Please click the link to access this resource.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis should include thoracolaryngopelvic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome and paternal uniparental disomy of chromosome 14 (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Jeune syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Jeune syndrome. Click on the link to view a sample search on this topic.
- Asphyxiating thoracic dystrophy. Genetics Home Reference. 2008; https://ghr.nlm.nih.gov/condition=asphyxiatingthoracicdystrophy. Accessed 1/21/2010.
- Harold Chen, MD, MS, FAAP, FACMG. Asphyxiating Thoracic Dystrophy (Jeune Syndrome). Medscape Reference. April 2015; https://emedicine.medscape.com/article/945537-overview.
- Jeune Syndrome. Orphanet. December 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474.